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STAG3 truncating variant as the cause of primary ovarian insufficiency.
Le Quesne Stabej, Polona; Williams, Hywel J; James, Chela; Tekman, Mehmet; Stanescu, Horia C; Kleta, Robert; Ocaka, Louise; Lescai, Francesco; Storr, Helen L; Bitner-Glindzicz, Maria; Bacchelli, Chiara; Conway, Gerard S.
Afiliação
  • Le Quesne Stabej P; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • Williams HJ; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • James C; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • Tekman M; Division of Medicine, UCL, London, UK.
  • Stanescu HC; Division of Medicine, UCL, London, UK.
  • Kleta R; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • Ocaka L; Division of Medicine, UCL, London, UK.
  • Lescai F; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • Storr HL; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • Bitner-Glindzicz M; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
  • Bacchelli C; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
  • Conway GS; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.
Eur J Hum Genet ; 24(1): 135-8, 2016 Jan.
Article em En | MEDLINE | ID: mdl-26059840
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 7 / Proteínas Nucleares / Insuficiência Ovariana Primária / Exoma / Amenorreia / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 7 / Proteínas Nucleares / Insuficiência Ovariana Primária / Exoma / Amenorreia / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Child / Female / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Reino Unido